ClinVar Miner

Variants in gene GJB2

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Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
111 87 111 42 26 1 296

Condition and significance breakdown #

Total conditions: 34
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Deafness, autosomal recessive 1A 62 69 53 3 7 0 162
not provided 47 12 34 8 9 0 101
not specified 7 1 32 25 15 0 71
Nonsyndromic hearing loss and deafness 40 19 6 0 0 0 65
Deafness, autosomal dominant 3a 33 19 0 1 1 0 50
Nonsyndromic Hearing Loss, Dominant 0 0 8 22 12 0 42
Hystrix-like ichthyosis with deafness 1 0 8 21 11 0 41
Mutilating keratoderma 2 0 8 20 11 0 41
Nonsyndromic Hearing Loss, Recessive 0 0 7 19 14 1 41
Keratitis-Ichthyosis-Deafness Syndrome 0 0 8 21 11 0 40
Hearing loss 30 2 4 1 0 0 37
Hearing impairment 25 1 0 0 0 0 25
Deafness, autosomal recessive 1A; Mutilating keratoderma; Hystrix-like ichthyosis with deafness; Keratitis-ichthyosis-deafness syndrome, autosomal dominant; Keratoderma palmoplantar deafness; Knuckle pads, deafness AND leukonychia syndrome; Deafness, autosomal dominant 3a; Deafness, X-linked 2 15 2 3 0 0 0 20
Keratitis-ichthyosis-deafness syndrome, autosomal dominant 5 1 0 0 0 0 6
Keratoderma palmoplantar deafness 5 0 0 0 0 0 5
Deafness, autosomal recessive 1A; Deafness, autosomal dominant 3a 1 0 1 0 1 0 3
Inborn genetic diseases 3 0 0 0 0 0 3
Deafness 1 0 0 0 0 1 2
Deafness, autosomal recessive 1A; Mutilating keratoderma; Hystrix-like ichthyosis with deafness; Keratitis-ichthyosis-deafness syndrome, autosomal dominant; Keratoderma palmoplantar deafness; Knuckle pads, deafness AND leukonychia syndrome; Deafness, autosomal dominant 3a 2 0 0 0 0 0 2
GJB2-Related Disorders 1 1 0 0 0 0 2
Knuckle pads, deafness AND leukonychia syndrome 2 0 0 0 0 0 2
Nonsyndromic Deafness 0 0 2 0 0 0 2
Progressive sensorineural hearing impairment 1 0 1 0 0 0 2
Bilateral sensorineural hearing impairment 1 0 0 0 0 0 1
Congenital omphalocele; Hearing impairment; Horseshoe kidney; Short palpebral fissure 1 0 0 0 0 0 1
Deafness, autosomal recessive 12 1 0 0 0 0 0 1
Deafness, digenic, GJB2/GJB3 1 0 0 0 0 0 1
Deafness, digenic, GJB2/GJB6 1 0 0 0 0 0 1
Hearing impairment; Bilateral conductive hearing impairment 1 0 0 0 0 0 1
Hearing impairment; Bilateral sensorineural hearing impairment 1 0 0 0 0 0 1
IFAP syndrome with or without BRESHECK syndrome 1 0 0 0 0 0 1
Pulmonary arterial hypertension; Respiratory distress; Neonatal respiratory distress 0 1 0 0 0 0 1
Sensorineural hearing loss 0 1 0 0 0 0 1
Severe sensorineural hearing impairment 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 21 58 44 1 0 0 124
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 40 19 19 19 13 0 110
Integrated Genetics/Laboratory Corporation of America 35 5 17 8 7 0 72
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 29 4 13 3 10 0 58
Illumina Clinical Services Laboratory,Illumina 9 4 9 22 15 0 56
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 24 4 13 2 5 0 48
GeneDx 29 8 4 2 3 0 46
OMIM 41 0 1 0 0 0 42
Athena Diagnostics Inc 20 1 14 2 3 0 40
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 21 4 3 3 9 0 40
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 30 2 4 1 0 0 37
Genetic Services Laboratory, University of Chicago 29 0 2 0 5 0 36
GeneReviews 28 0 0 0 1 0 28
Fulgent Genetics 15 2 3 0 0 0 20
ClinGen Hearing Loss Variant Curation Expert Panel, 6 1 7 0 0 0 14
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 9 3 0 0 0 0 12
PreventionGenetics 0 0 0 3 7 0 10
Knight Diagnostic Laboratories,Oregon Health and Sciences University 4 2 0 0 0 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 4 1 1 0 0 0 6
Division of Human Genetics,Children's Hospital of Philadelphia 5 0 0 0 0 0 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 2 1 0 0 1 0 4
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 1 2 0 1 0 0 4
Institut Pasteur du Maroc 4 0 0 0 0 0 4
Ambry Genetics 3 0 0 0 0 0 3
Center for Statistical Genetics,Baylor College of Medicine 3 0 0 0 0 0 3
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 0 2 0 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 2 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 1 0 1 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 0 0 0 2
Laboratory of Medical Genetics,National & Kapodistrian University of Athens 2 0 0 0 0 0 2
Molecular Otolaryngology and Renal Research Laboratories,University of Iowa Hospital and Clinics 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
CSER_CC_NCGL; University of Washington Medical Center 1 0 0 0 0 0 1
Deafness research group, Biosystems & Integrative Sciences Institute,University of Lisbon 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Medical Genetics,University of Parma 1 0 0 0 0 0 1
Laboratory of Prof. Karen Avraham,Tel Aviv University 1 0 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 0 0 0 1
Kasturba Medical College,Manipal University 1 0 0 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 0 1
FAHD UNIT, Department of Genetics,King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 1 0 0 0 0 1
Laboratoire de Genetique Biologique, CHU de Poitiers 0 1 0 0 0 0 1
Uitto Lab,Thomas Jefferson University 1 0 0 0 0 0 1
Core Molecular Diagnostic Lab,McGill University Health Centre 1 0 0 0 0 0 1
Laboratory of Human Molecular Genetics,Institute of Cytology and Genetics 0 1 0 0 0 0 1

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